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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WNK4 Gene

protein-coding   GIFtS: 63
GCID: GC17P040932

WNK Lysine Deficient Protein Kinase 4

(Previous names: protein kinase, lysine deficient 4)
(Previous symbol: PRKWNK4)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
WNK Lysine Deficient Protein Kinase 41 2     PHA2B2 5
PRKWNK41 2 3 5     Protein Kinase, Lysine Deficient 41
Protein Kinase Lysine-Deficient 42 3     Serine/Threonine-Protein Kinase WNK42
Protein Kinase With No Lysine 42 3     EC 2.7.118
EC 2.7.11.13 8     

External Ids:    HGNC: 145441   Entrez Gene: 652662   Ensembl: ENSG000001265627   OMIM: 6018445   UniProtKB: Q96J923   

Export aliases for WNK4 gene to outside databases

Previous GC identifers: GC17P038188 GC17P036697


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for WNK4 Gene:
This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight
junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The
kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in
electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.(provided
by RefSeq, Sep 2009)

GeneCards Summary for WNK4 Gene: 
WNK4 (WNK lysine deficient protein kinase 4) is a protein-coding gene. Diseases associated with WNK4 include pseudohypoaldosteronism type iib, and pseudohypoaldosteronism type ii, and among its related super-pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. GO annotations related to this gene include protein serine/threonine kinase activity and ATP binding. An important paralog of this gene is WNK1.

UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92
Function: Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell
signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride
cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D,
SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by
phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel,
KCNJ1, via a kinase-independent mechanism by which it induces clearance of the protein from the cell surface by
clathrin-dependent endocytosis. WNK4 appears to act as a molecular switch that can vary the balance between NaCl
reabsorption and K(+) secretion to maintain integrated homeostasis. Phosphorylates NEDD4L

Gene Wiki entry for WNK4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WNK4 gene promoter:
         STAT1   Pax-5   SREBP-1c   STAT1beta   CUTL1   STAT1alpha   SREBP-1b   Roaz   SREBP-1a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWNK4 promoter sequence
   Search SABiosciences Chromatin IP Primers for WNK4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WNK4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21-q22   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21-q22

WNK4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WNK4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P040932:  view genomic region     (about GC identifiers)

Start:
40,932,649 bp from pter      End:
40,949,084 bp from pter
Size:
16,436 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase WNK4  
Size: 1243 amino acids; 134739 Da
Cofactor: Magnesium (By similarity)
Subunit: Interacts with the C-terminal region of KCNJ1 (By similarity). Interacts with WNK1 and WNK3 (By
similarity)
Subcellular location: Cell junction, tight junction (By similarity). Note=Present exclusively in intercellular
junctions in the distal convoluted tubule and in both the cytoplasm and intercellular junctions in the cortical
collecting duct. WNK4 is part of the tight junction complex (By similarity)
Caution: Cys-203 is present instead of the conserved Lys which is expected to be an active site residue. Lys-186
appears to fulfill the required catalytic function
Sequence caution: Sequence=BAC04669.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAC48387.1; Type=Frameshift; Positions=4;
1 PDB 3D structure from and Proteopedia for WNK4:
2V3S (3D)    
Secondary accessions: Q8N8X3 Q8N8Z2 Q96DT8 Q9BYS5
Alternative splicing: 3 isoforms:  Q96J92-1   Q96J92-2   Q96J92-3   (No experimental confirmation available. Incomplete sequence)

Explore the universe of human proteins at neXtProt for WNK4: NX_Q96J92

Explore proteomics data for WNK4 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by WNK1 and WNK3 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96J92

  • 4/10 DME Specific Peptides for WNK4 (Q96J92) (see all 10)
     EYPYSEC  ILHRDLK  EIGRGSF  FGMCMLEM 

    WNK4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    WNK4 Protein Expression
    REFSEQ proteins: NP_115763.2  
    ENSEMBL proteins: 
     ENSP00000246914   ENSP00000467088   ENSP00000467312  

    Human Recombinant Protein Products for WNK4: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for WNK4 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005923tight junction ISS--

    WNK4 for ontologies           About GeneDecksing



    WNK4 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for WNK4 
    Cloud-Clone Corp. CLIAs for WNK4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: WNK lysine deficient protein kinase 4 
    Wnk family

    4 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR024678 Kinase_OSR1/WNK_CCT
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q96J92

    ProtoNet protein and cluster: Q96J92

    UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily
    Similarity: Contains 1 protein kinase domain


    WNK4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WNK4_HUMAN, Q96J92
    Function: Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell
    signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride
    cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D,
    SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by
    phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel,
    KCNJ1, via a kinase-independent mechanism by which it induces clearance of the protein from the cell surface by
    clathrin-dependent endocytosis. WNK4 appears to act as a molecular switch that can vary the balance between NaCl
    reabsorption and K(+) secretion to maintain integrated homeostasis. Phosphorylates NEDD4L
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Activation requires autophosphorylation of Ser-335. Phosphorylation of Ser-331 also promotes
    increased activity (By similarity)

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity ISS--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI17721439
    GO:0005524ATP binding ISS--
         
    WNK4 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for WNK4:
     Increased cell death HMECs cel  Increased cell spreading  Increased colony dispersion (i  Upregulation of Wnt/beta-caten 

         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Wnk4):
     cardiovascular system  homeostasis/metabolism  no phenotypic analysis  renal/urinary system 

    WNK4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for WNK4: Wnk4tm2.1Suc Wnk4tm1Pfi

       inGenious Targeting Laboratory - Custom generated mouse model solutions for WNK4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for WNK4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for WNK4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for WNK4 

    miRNA
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    miRTarBase miRNAs that target WNK4:
    hsa-mir-296-5p (MIRT004559)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WNK4
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate WNK4 (see all 11):
    hsa-miR-140-5p hsa-miR-502-5p hsa-miR-563 hsa-miR-26b* hsa-miR-1291 hsa-miR-380* hsa-miR-654-5p hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidWNK4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WNK4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for WNK4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Tight junctions0.33
    2Diuretics Pathway, Pharmacodynamics
    Diuretics Pathway, Pharmacodynamics
    3PI3K / Akt Signaling
    PI3K / Akt Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for WNK4
        Cell adhesion Tight junctions


    1 Cell Signaling Technology (CST) Pathway for WNK4
        PI3K / Akt Signaling

    1 GeneGo (Thomson Reuters) Pathway for WNK4
        Cell adhesion Tight junctions

    1 PharmGKB Pathway for WNK4
        Diuretics Pathway, Pharmacodynamics


    WNK4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for WNK4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/56 Interacting proteins for WNK4 (Q96J922, 3 ENSP000002469144) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OXSR1O957472, 3, ENSP000003117134MINT-5207699 MINT-5207631 MINT-5207540 MINT-5207597 MINT-5207682 MINT-5207580 MINT-5207648 MINT-5207716 MINT-5207665 MINT-5207614 MINT-5207558 I2D: score=1 STRING: ENSP00000311713
    YWHAQP273482, 3, ENSP000002380814MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    STK39Q9UEW83, ENSP000003482784I2D: score=3 STRING: ENSP00000348278
    SLC12A3P550173, ENSP000002625024I2D: score=1 STRING: ENSP00000262502
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ISS--
    GO:0006811ion transport ISS--
    GO:0006821chloride transport IEA--
    GO:0007243intracellular protein kinase cascade ISS--
    GO:0008104protein localization IEA--

    WNK4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    WNK4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WNK4

    4 HMDB Compounds for WNK4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    ChlorineCl2 (see all 13)16887-00-6--
    MagnesiumMagnesium (see all 2)7439-95-4--

    9 Novoseek inferred chemical compound relationships for WNK4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiazide 71 2 15639021 (1), 17975670 (1)
    lysine 68.9 19 15639021 (2), 14769928 (2), 14616768 (1), 19706464 (1) (see all 11)
    nacl 59.7 18 15841204 (2), 19401467 (2), 15796898 (2), 16820787 (1) (see all 13)
    threonine 58 3 19690383 (1), 18547946 (1), 17647025 (1)
    potassium 55.8 14 15300163 (3), 15639021 (1), 18695394 (1), 15081430 (1) (see all 10)
    chloride 48.9 6 15300163 (3), 15639021 (1), 15637347 (1), 17194447 (1)
    serine 45.8 3 19690383 (1), 19706464 (1), 18547946 (1)
    sodium 42.1 5 18277144 (2), 15639021 (1), 18695394 (1), 19690383 (1)
    proline 39.9 2 16173916 (1), 19587141 (1)

    Search CenterWatch for drugs/clinical trials and news about WNK4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for WNK4 gene: 
    NM_032387.4  

    Unigene Cluster for WNK4:

    WNK lysine deficient protein kinase 4
    Hs.105448  [show with all ESTs]
    Unigene Representative Sequence: NM_032387
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000246914(uc002ibj.3 uc010wgx.2 uc002ibk.1 uc010wgy.1)
    ENST00000591448 ENST00000592669 ENST00000587705 ENST00000592072 ENST00000587745

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    Additional mRNA sequence: 

    AF390018.1 AJ309861.1 AJ316534.1 AK096003.1 AK096052.1 AK301963.1 BC136664.1 BC144356.1 

    6 DOTS entries:

    DT.91746101  DT.100022245  DT.95224531  DT.100789457  DT.92025546  DT.92052927 

    24/66 AceView cDNA sequences (see all 66):

    AA877924 AJ316534 AJ309861 NM_032387 BM683764 CA388931 AA687630 AK096003 
    AI244885 AL041763 AW135316 CA388932 AA513292 AF390018 BX118400 AI650786 
    BG178029 AA700228 CD633905 BM009696 CD633911 CD633899 AA872586 D25718 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WNK4 expression in normal human tissues (normalized intensities)      WNK4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    WNK4 Expression
    About this image


    WNK4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             heart/atrium   
     
     Fibroblast
             Human Lymphatic Fibroblasts (HLF)   
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             visceral organ/oral region/upper jaw   
     
     Kidney (Urinary System)
             Distal Tubule Cells Distal Tubule
     
     Uncategorized (Uncategorized)
             PureStem progenitor RP1-MV2-16

    See WNK4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WNK4

    SOURCE GeneReport for Unigene cluster: Hs.105448

    UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92
    Tissue specificity: Expressed in kidney, colon and skin

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WNK4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for WNK4 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wnk41 , 5 WNK lysine deficient protein kinase 41, 5 85.75(n)1
    87.8(a)1
      11 (64.51 cM)5
    698471  NM_175638.31  NP_783569.11 
     1012605675 
    chicken
    (Gallus gallus)
    Aves LOC7775801 serine/threonine-protein kinase WNK4-like 64.06(n)
    62.8(a)
      777580  XM_003642827.1  XP_003642875.1 
    lizard
    (Anolis carolinensis)
    Reptilia WNK46
    WNK lysine deficient protein kinase 4
    51(a)
    1 ↔ 1
    6(62189724-62256854)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003309531 serine/threonine-protein kinase WNK4-like 62.63(n)
    60.61(a)
      100330953  XM_002663887.2  XP_002663933.2 
    rice
    (Oryza sativa)
    Liliopsida AK100930.12   -- 73.32(n)    AK100930.1 


    ENSEMBL Gene Tree for WNK4 (if available)
    TreeFam Gene Tree for WNK4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WNK4 gene
    WNK12  WNK22  NRBP12  NRBP22  WNK32  
    18/27 SIMAP similar genes for WNK4 using alignment to 4 protein entries:     WNK4_HUMAN (see all proteins) (see all similar genes):
    CAMK2A    PKN2    BRAF    STK11    NEK6    NEK9
    ULK1    STK25    WNK2    BRSK2    MAPK3    NRBP2
    CDK3    CDK4    MARK4    STK17A    DAPK1    NEK7

    WNK4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/577 SNPs in WNK4 are shown (see all 577)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0413324
    A metastatic melanoma sample4--see VAR_0413322 P S mis40--------
    VAR_0175884
    Pseudohypoaldosteronism 2B (PHA2B)4--see VAR_0175882 E K mis40--------
    VAR_0175894
    Pseudohypoaldosteronism 2B (PHA2B)4--see VAR_0175892 D A mis40--------
    VAR_0175914
    Pseudohypoaldosteronism 2B (PHA2B)4--see VAR_0175912 R C mis40--------
    VAR_0175904
    Pseudohypoaldosteronism 2B (PHA2B)4--see VAR_0175902 Q E mis40--------
    VAR_0413304
    An ovarian mucinous carcinoma sample4--see VAR_0413302 E D mis40--------
    rs1378530931,2
    Cpathogenic141728864(+) AGCCAA/GAGGCA 2 K E mis10--------
    rs1378530941,2
    Cpathogenic141728871(+) GGCAGA/CCCAGC 2 D A mis10--------
    rs1378530921,2
    Cpathogenic141728873(+) CAGACC/GAGCAC 2 Q E mis10--------
    rs1378530951,2
    Cpathogenic141737623(+) CCAGCC/TGCCAG 2 R C mis10--------

    HapMap Linkage Disequilibrium report for WNK4 (40932649 - 40949084 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for WNK4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833450CNV Loss17160897
    nsv827998CNV Loss20364138
    nsv908257CNV Loss21882294
    esv33998OTHER Inversion15654335


    Human Gene Mutation Database (HGMD): WNK4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing WNK4
    DNA2.0 Custom Variant and Variant Library Synthesis for WNK4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601844   
    OMIM disorders: 145260  
    UniProtKB/Swiss-Prot: WNK4_HUMAN, Q96J92
  • Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491]: An autosomal dominant disorder characterized by
    hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis, and correction of physiologic
    abnormalities by thiazide diuretics. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 12 diseases for WNK4:    About MalaCards
    pseudohypoaldosteronism type iib    pseudohypoaldosteronism type ii    pseudohypoaldosteronism    loeys-dietz syndrome
    glucocorticoid-remediable aldosteronism    liddle syndrome    essential hypertension    autosomal dominant disease
    hypertension    choroiditis    cystic fibrosis    pancreatitis

    4 diseases from the University of Copenhagen DISEASES database for WNK4:
    Pseudohypoaldosteronism     Hypertension     Liddle syndrome     Metabolic acidosis

    WNK4 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for WNK4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohypoaldosteronism 96.5 23 15300163 (2), 16173916 (1), 15796898 (1), 19016006 (1) (see all 21)
    gordon syndrome 95 6 19470686 (1), 18277144 (1), 16683163 (1), 15866321 (1) (see all 6)
    hyperkalemia 87.2 21 15696009 (2), 12515852 (2), 17360471 (2), 18695394 (1) (see all 15)
    hyperchloremia 77.6 1 12515852 (1)
    genetic hypertension 68.3 3 15309683 (1), 16501604 (1)
    essential hypertension 60.4 10 19340547 (4), 14967840 (2), 12719438 (1), 15866321 (1) (see all 6)
    metabolic acidosis 56 1 12515852 (1)
    hypertension arterial 31.7 2 16173916 (1), 18701621 (1)
    hypotension 1.69 2 15309683 (1)

    Genetic Association Database (GAD): WNK4
    Human Genome Epidemiology (HuGE) Navigator: WNK4 (12 documents)

    Export disorders for WNK4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for WNK4 gene, integrated from 9 sources (see all 107):
    (articles sorted by number of sources associating them with WNK4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of Ala589Ser polymorphism of WNK4 gene with essential hypertension in a high-risk Chinese population. (PubMed id 19340547)1, 4, 9 Sun Z.J....Zhao Y.Y. (2009)
    2. Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population. (PubMed id 15309683)1, 4, 9 Kokubo Y....Miyata T. (2004)
    3. Genetic variants of WNK4 in whites and African Americans with hypertension. (PubMed id 12719438)1, 4, 9 Erlich P.M....DeStefano A.L. (2003)
    4. WNK4 intron 10 polymorphism is not associated with hypertension. (PubMed id 14967840)1, 4, 9 Speirs H.J. and Morris B.J. (2004)
    5. The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics. (PubMed id 15824464)1, 4, 9 Matayoshi T....Kawano Y. (2004)
    6. Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension. (PubMed id 14616768)1, 4, 9 Benjafield A.V....Morris B.J. (2003)
    7. Serum and glucocorticoid-induced kinase (SGK) 1 and t he epithelial sodium channel are regulated by multiple with no lysine (WNK) fam ily members. (PubMed id 20525693)1, 2 Heise C.J....Cobb M.H. (2010)
    8. [Association of the C1155547T polymorphism in WNK4 ge ne with essential hypertension in Xinjiang Kazakhs]. (PubMed id 20931534)1, 4 Cao F.F....Jin L. (2010)
    9. WNK4 polymorphisms and essential hypertension in the Uyghur population. (PubMed id 19330605)1, 4 Lu M....Jin L. (2009)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 65266 HGNC: 14544 AceView: PRKWNK4 Ensembl:ENSG00000126562 euGenes: HUgn65266
    ECgene: WNK4 H-InvDB: WNK4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for WNK4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNK4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for WNK4 gene:
    Search GeneIP for patents involving WNK4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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